Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Koczkowska Magdalena; Callens Tom; Gomes Alicia; Sharp Angela; Chen Yunjia; Hicks Alesha D.; Aylsworth Arthur S.; Azizi Amedeo A.; Basel Donald G.; Bellus Gary; Bird Lynne M.; Blazo Maria A.; Burke Leah W.; Cannon Ashley; Collins Felicity; DeFilippo Colette; Denayer Ellen; Digilio Maria C.; Dills Shelley K.; Dosa Laura; Greenwood Robert S.; Griffis Cristin; Gupta Punita; Hachen Rachel K.; Hernandez-Chico Concepcion; Janssens Sandra; Jones Kristi J.; Jordan Justin T.; Kannu Peter; Korf Bruce R.; Lewis Andrea M.; Listernick Robert H.; Lonardo Fortunato; Mahoney Maurice J.; Ojeda Mayra Martinez; McDonald Marie T.; McDougall Carey; Mendelsohn Nancy; Miller David T.; Mori Mari; Oostenbrink Rianne; Perreault Sebastian; Pierpont Mary Ella; Piscopo Carmelo; Pond Dinel A.; Randolph Linda M.; Rauen Katherine A.; Rednam Surya; Rutledge S. Lane; Saletti Veronica; Schaefer G. Bradley; Schorry Elizabeth K.; Scott Daryl A.; Shugar Andrea; Siqveland Elizabeth; Starr Lois J.; Syed Ashraf; Trapane Pamela L.; Ullrich Nicole J.; Wakefield Emily G.; Walsh Laurence E.; Wangler Michael F.; Zackai Elaine; Claes Kathleen B. M.; Wimmer Katharina; van Minkelen Rick; De Luca Alessandro; Martin Yolanda; Legius Eric; Messiaen Ludwine M.

首页> 外文期刊>Genetics in medicine >Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

机译：扩大NF1基因的3-BP内型缺失的个体的临床表型（C.2970_2972DEL）：基因型表型相关的更新

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Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors.

机译：目的：神经纤维瘤病1（NF1）的特征在于一种高度可变的临床介绍，而是几乎所有NF1受影响的成人存在皮肤和/或皮下神经纤维腈。例外是单独的NF1内缺失，C.2970_2972DEL（P.Met992del），与轻度表型没有任何外部可见肿瘤相关的杂合。

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《Genetics in medicine》 |2019年第4期|共10页
作者
Koczkowska Magdalena; Callens Tom; Gomes Alicia; Sharp Angela; Chen Yunjia; Hicks Alesha D.; Aylsworth Arthur S.; Azizi Amedeo A.; Basel Donald G.; Bellus Gary; Bird Lynne M.; Blazo Maria A.; Burke Leah W.; Cannon Ashley; Collins Felicity; DeFilippo Colette; Denayer Ellen; Digilio Maria C.; Dills Shelley K.; Dosa Laura; Greenwood Robert S.; Griffis Cristin; Gupta Punita; Hachen Rachel K.; Hernandez-Chico Concepcion; Janssens Sandra; Jones Kristi J.; Jordan Justin T.; Kannu Peter; Korf Bruce R.; Lewis Andrea M.; Listernick Robert H.; Lonardo Fortunato; Mahoney Maurice J.; Ojeda Mayra Martinez; McDonald Marie T.; McDougall Carey; Mendelsohn Nancy; Miller David T.; Mori Mari; Oostenbrink Rianne; Perreault Sebastian; Pierpont Mary Ella; Piscopo Carmelo; Pond Dinel A.; Randolph Linda M.; Rauen Katherine A.; Rednam Surya; Rutledge S. Lane; Saletti Veronica; Schaefer G. Bradley; Schorry Elizabeth K.; Scott Daryl A.; Shugar Andrea; Siqveland Elizabeth; Starr Lois J.; Syed Ashraf; Trapane Pamela L.; Ullrich Nicole J.; Wakefield Emily G.; Walsh Laurence E.; Wangler Michael F.; Zackai Elaine; Claes Kathleen B. M.; Wimmer Katharina; van Minkelen Rick; De Luca Alessandro; Martin Yolanda; Legius Eric; Messiaen Ludwine M.;
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作者单位

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Univ N Carolina Dept Pediat Chapel Hill NC 27515 USA;

Med Univ Vienna Dept Pediat &

Adolescent Med Div Neonatol Pediat Intens Care &

Neuropediat;

Childrens Hosp Wisconsin Milwaukee WI 53201 USA;

Univ Colorado Childrens Hosp Dept Clin Genet &

Metab Sch Med Aurora CO USA;

Univ Calif San Diego Dept Pediat Rady Childrens Hosp Div Genet Dysmorphol San Diego CA 92103;

Baylor Scott &

White Hosp Temple TX USA;

Univ Vermont Med Ctr Clin Genet Program Burlington VT USA;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Childrens Hosp Westmead Dept Clin Genet Westmead NSW Australia;

UC Davis MIND Inst Dept Pediat Div Genom Med Sacramento CA USA;

Univ Leuven KU Leuven Dept Human Genet Leuven Belgium;

IRCCS Med Genet Unit Bambino Gesu Childrens Rome Italy;

Carolinas Med Ctr Charlotte NC 28203 USA;

AOU Meyer SOC Genet Med Florence Italy;

Univ N Carolina Sch Med Dept Neurol Div Child Neurol Chapel Hill NC 27515 USA;

Childrens Hosp Wisconsin Milwaukee WI 53201 USA;

St Josephs Childrens Hosp Neurofibromatosis Diagnost &

Treatment Program Paterson NJ USA;

Childrens Hosp Philadelphia Neurofibromatosis Program Philadelphia PA 19104 USA;

Hosp Univ Ramon y Cajal Inst Hlth Res IRYCIS Dept Genet Madrid Spain;

Ghent Univ Hosp Ctr Med Genet Ghent Belgium;

Childrens Hosp Westmead Dept Clin Genet Westmead NSW Australia;

Massachusetts Gen Hosp Dept Neurol Boston MA 02114 USA;

Hosp Sick Children Div Clin &

Metab Genet Toronto ON Canada;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Northwestern Univ Dept Pediat Feinberg Sch Med Chicago IL 60611 USA;

G Rummo Hosp Med Genet Unit Benevento Italy;

Yale Univ Dept Genet New Haven CT USA;

Boston Childrens Hosp Div Genet &

Genom Boston MA USA;

Duke Univ Dept Pediat Sch Med Div Med Genet Durham NC 27706 USA;

Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;

Childrens Hosp Minnesota Genom Med Program Minneapolis MN USA;

Boston Childrens Hosp Div Genet &

Genom Boston MA USA;

Brown Univ Dept Pediat Warren Alpert Med Sch Providence RI 02912 USA;

Erasmus MC Sophia Dept Gen Pediat Rotterdam Netherlands;

CHU St Justine Mother &

Child Univ Hosp Ctr Montreal PQ Canada;

Univ Minnesota Dept Pediat &

Ophthalmol Minneapolis MN USA;

AORN A Cardarelli UOSC Med Genet Naples Italy;

Childrens Hosp Minnesota Genom Med Program Minneapolis MN USA;

Univ Southern Calif Childrens Hosp Los Angeles Keck Sch Med Div Med Genet Los Angeles CA USA;

UC Davis MIND Inst Dept Pediat Div Genom Med Sacramento CA USA;

Baylor Coll Med Dept Pediat Sect Hematol Oncol Houston TX 77030 USA;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

IRCCS Fdn Carlo Besta Neurol Inst Dev Neurol Unit Milan Italy;

Univ Arkansas Med Sci Arkansas Childrens Hosp Div Med Genet Little Rock AR 72205 USA;

Cincinnati Childrens Hosp Med Ctr Div Human Genet Cincinnati OH 45229 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Hosp Sick Children Div Clin &

Metab Genet Toronto ON Canada;

Childrens Hosp Minnesota Genom Med Program Minneapolis MN USA;

Univ Nebraska Med Ctr Munroe Meyer Inst Genet Med Omaha NE USA;

DCH Reg Med Ctr Northport AL USA;

Univ Iowa Hosp &

Clin Stead Family Dept Pediat Iowa City IA 52242 USA;

Boston Childrens Hosp Dept Neurol Boston MA USA;

Cincinnati Childrens Hosp Med Ctr Div Human Genet Cincinnati OH 45229 USA;

Indiana Univ Sch Med Dept Neurol Indianapolis IN 46202 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;

Ghent Univ Hosp Ctr Med Genet Ghent Belgium;

Med Univ Innsbruck Div Human Genet Innsbruck Austria;

Erasmus MC Dept Clin Genet Rotterdam Netherlands;

IRCCS Casa Sollievo Sofferenza Mol Genet Unit Foggia Italy;

Hosp Univ Ramon y Cajal Inst Hlth Res IRYCIS Dept Genet Madrid Spain;

Univ Leuven KU Leuven Dept Human Genet Leuven Belgium;

Univ Alabama Birmingham Dept Genet Birmingham AL 35294 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
NF1; p.Met992del; genotype-phenotype correlation; neurofibroma; learning difficulties;

机译：nf1;p.met992del;基因型 - 表型相关;神经纤维瘤;学习困难;

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专利

1. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation [J] . Koczkowska Magdalena, Callens Tom, Gomes Alicia, Genetics in medicine . 2019,第4期

机译：扩大NF1基因的3-BP内型缺失的个体的临床表型（C.2970_2972DEL）：基因型表型相关的更新
2. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation [J] . Upadhyaya M, Huson SM, Davies M, The American Journal of Human Genetics . 2007,第1期

机译：缺少与NF1基因第17外显子的3 bp读框缺失相关的皮肤神经纤维瘤（c.2970-2972 delAAT）：临床上明显的NF1基因型与表型相关的证据
3. Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth [J] . Lennart Well, Kimberly D?bel, Lan Kluwe, PLoS Genetics . 2021,第5期

机译：神经纤维瘤病中的基因型 - 表型相关性-1：<斜体> NF1 全基因缺失导致高肿瘤负担和增加的肿瘤生长
4. The associations of sequence variants in DNA-repair and cell-cycle genes with cancer risk: genotype-phenotype correlations [C] . Janet Hall, Virginie Marcel, Celeste Bolin Biochemical Society Symposium . 2009

机译：DNA修复和细胞周期基因中序列变体在具有癌症风险的关联：基因型 - 表型相关性
5. Functional data analysis approaches for genotype-phenotype association studies from next-generation sequencing. [D] . Luo, Li. 2010

机译：用于下一代测序的基因型-表型关联研究的功能数据分析方法。
6. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation [O] . Magdalena Koczkowska, Tom Callens, Alicia Gomes, -1

机译：通过3 bp框内缺失NF1基因来扩大个体的临床表型（c.2970_2972del）：基因型-表型相关性的更新
7. An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation [O] . Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom (M.U., Upadhyaya, M. ( author ), Huson, S.M. ( author ), 2007

机译：缺乏与1 bp NF1基因外显子3bp缺失的皮肤神经纤维瘤（c.2970-2972 delAAT）：临床上重要的NF1基因型与表型相关的证据

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

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